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    Mutation

    Mutation: the changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes.

    Webinars

    • MAR 14, 2019 | 9:00 AM
      A Gene Expression Based Screening Platform for Mouse Models of Late-Onset Alzheimer's Disease
      A Gene Expression Based Screening Platform for Mouse Models of...
      Late-onset Alzheimer’s disease (LOAD) is the most common form of dementia worldwide. To date, animal models of Alzheimer’s have focused on rare familial mutations, due to a lack o...
      Speaker: Greg Carter, PhD
      Presented at: Neuroscience Virtual Event Series 2019
      Sponsored By: NanoString Technologies
      2
      MAR 13, 2019 | 6:00 AM
      Keynote Presentation: Updates from the NIH BRAIN Initiative
      Keynote Presentation: Updates from the NIH BRAIN Initiative
      Joshua Gordon, M.D., Ph.D., Director of the National Institute of Mental Health, will provide an overview of challenges and opportunities in mental health research. Dr. Gordon will present em...
      Speaker: Joshua A. Gordon, MD, PhD
      Presented at: Neuroscience Virtual Event Series 2019
      3
      FEB 27, 2019 | 10:30 AM
      The Current State-of-the-Art Tissue Expression Analysis Platform for Detection & Quantification of Target & Biomarker mRNAs, Splice Variants and Mutations in Preclinical & Clinical Tissues
      The Current State-of-the-Art Tissue Expression Analysis Platform...
      Advanced Cell Diagnostics’ RNAscope products and assay services are utilized widely for tissue-based gene expression analysis in early target validation, preclinical animal efficacy and...
      Speaker: Christopher Bunker, PhD
      Presented at: Drug Discovery Virtual Event Series 2019
      Sponsored By: Advanced Cell Diagnostics
      1
      FEB 27, 2019 | 7:30 AM
      Keynote Presentation: Second Harmonic Generation Detection of Ras Conformational Changes and Discovery of a Novel Small-Molecule Binder
      Keynote Presentation: Second Harmonic Generation Detection of...
      Second harmonic generation (SHG) is a biophysical method that sensitively measures real-time conformational change of biomolecules attached to membranes. SHG has recently been applied to dete...
      Speaker: Frank McCormick, PhD
      Presented at: Drug Discovery Virtual Event Series 2019
      1
      NOV 20, 2018 | 7:00 AM
      COLD-PCR technology: current status and application in liquid biopsies for cancer and prenatal diagnosis
      COLD-PCR technology: current status and application in liquid...
      DATE: November 20, 2018TIME: 07:00 PSTSince its original development (2008) COLD-PCR has been used by several groups for increasing the sensitivity of mutation detection in di...
      Speaker: Mike Makrigiorgos, PhD
      Sponsored By: Revvity
      5
      NOV 15, 2018 | 12:00 PM
      Using human stem cells to model neocortical gyration phenotypes
      Using human stem cells to model neocortical gyration phenotypes
      Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Using human genetics approaches, we recently identified bi-allelic truncatin...
      Speaker: Ashleigh Schaffer
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      6 1
      NOV 15, 2018 | 8:00 AM
      Precise Gene Editing of Human Pluripotent Stem Cells
      Precise Gene Editing of Human Pluripotent Stem Cells
      CRISPR ribonucleoproteins (RNPs) can generate programmable gene edits, however imprecise editing and efficient delivery to human stem cells are key challenges. Here we describe novel biochemi...
      Speaker: Kris Saha
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      11
      NOV 15, 2018 | 7:00 AM
      Use of stem-cell derived endothelial cells for disease relevant cell modeling and drug discovery
      Use of stem-cell derived endothelial cells for disease relevant...
      The use of human pluripotent stem cells (hPSCs) for in vitro disease-modeling is limited by the lack of robust and efficient protocols for the differentiation of relevant adult cell types. Pr...
      Speaker: Filip Roudnicky
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      8
      NOV 15, 2018 | 4:00 AM
      Generation and application of 3D-organoid cell culture models using human induced pluripotent stem cells (iPSCs) for drug discovery
      Generation and application of 3D-organoid cell culture models...
      Development of physiologically relevant cellular models, with strong translatability to human pathophysiology, is critical for identification and validation of novel therapeutic targets. Cell...
      Speaker: Ryan Hicks
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      10 2
      NOV 14, 2018 | 9:00 AM
      Accelerating Cancer Research and Clinical Innovations Using OncoLand
      Accelerating Cancer Research and Clinical Innovations Using OncoLand
      With significant decrease in the cost of sequencing in numerous commercial as well as cancer center–driven initiatives, genomic profiling is increasingly becoming routine across multipl...
      Speaker: Bing Zhou, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2018
      Sponsored By: QIAGEN
      1
      OCT 31, 2018 | 8:00 AM
      Chromatin immunoprecipitation: Five steps to great results
      Chromatin immunoprecipitation: Five steps to great results
      DATE: October 31, 2018TIME: 8:00AM PDTChromatin immunoprecipitation (ChIP) is a technique researchers employ to obtain a snapshot of protein-DNA interactions in the cell.  ChI...
      Speaker: Eliza Small, PhD
      Sponsored By: Thermo Fisher Scientific
      10
      OCT 23, 2018 | 10:00 AM
      Pediatric Cancer Genomics: Accessing Data, Tools and Visualizations in St. Jude Cloud
      Pediatric Cancer Genomics: Accessing Data, Tools and Visualizations...
      DATE: October 23, 2018TIME: 10:00am PDT, 1:00pm EDT Next-generation genomic sequencing is transforming what is known about pediatric cancer and how we treat patients. But eve...
      Speaker: Scott Newman, PhD , Clay McLeod
      Sponsored By: DNAnexus
      5
      OCT 11, 2018 | 1:30 PM
      Exploiting Cis-Regulatory Enhancers as Therapeutic Targets in Cancer
      Exploiting Cis-Regulatory Enhancers as Therapeutic Targets in...
      Recent work has identified epigenomic features of distal regulatory elements to be dynamic and defining indicators of cellular specification and transformation. Of particular relevance is our...
      Speaker: Martin Hirst, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      1
      OCT 11, 2018 | 12:00 PM
      Lung Cancer Evolution and Immune Escape
      Lung Cancer Evolution and Immune Escape
      Lung cancer is the leading cause of cancer-related mortality worldwide. Large-scale sequencing studies have revealed the complex genomic landscape of NSCLC and genomic differences between lun...
      Speaker: Nicholas McGranahan, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      1
      OCT 11, 2018 | 9:00 AM
      Destabilization and Degradation of MYC: More Ways Than One
      Destabilization and Degradation of MYC: More Ways Than One
      The oncogenic transcription factor c-MYC (MYC) is deregulated, and often overexpressed, in more than 50% of cancers. MYC deregulation is associated with poor prognosis and aggressive disease,...
      Speaker: Jason De Melo, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
      1
      OCT 03, 2018 | 12:00 PM
      Using CRISPR and Stem Cells to Treat Genetic Disease
      Using CRISPR and Stem Cells to Treat Genetic Disease
      Decoding human genetic disease allows us to develop models of the pathology that can be directly tested with gene correction or targeted drug therapy.  Dominant negative mutations are pa...
      Speaker: Bruce Conklin, MD
      Presented at: CRISPR Virtual Event Series 2018
      1
      SEP 12, 2018 | 12:00 PM
      ONETest PathoGenome: A Target Hybridization-Based Next-Generation Sequencing Assay to Tackle Undiagnosed Infections
      ONETest PathoGenome: A Target Hybridization-Based Next-Generation...
      Every year, approximately 800,000 critically ill patients are hospitals in the USA with undiagnosed infections. The only option is to treat these patients with broad-spectrum antimicrobial th...
      Speaker: Mohammad Qadir, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2018
      1 1
      SEP 12, 2018 | 6:00 AM
      Accelerating Tuberculosis Elimination with Genomics
      Accelerating Tuberculosis Elimination with Genomics
      The WHO has set ambitious targets for eliminating TB in low-incidence countries such as the US and Canada. While it’s true that the majority of TB cases in these settings arise from rea...
      Speaker: Jennifer Gardy, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2018
      3
      AUG 09, 2018 | 8:00 AM
      Exon-level array: Bridging the gap between chromosomal microarray and next-gen sequencing
      Exon-level array: Bridging the gap between chromosomal microarray...
      DATE:  August 9, 2018TIME:  8:00am PDT, 11:00am EDT Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive...
      Speaker: Nicole de Leeuw, PhD , Kristina Cusmano-Ozog, MD
      Sponsored By: Thermo Fisher Scientific - Applied Biosystems
      9
      AUG 07, 2018 | 8:00 AM
      Using Reference Standards to Validate your NGS Oncology Workflow
      Using Reference Standards to Validate your NGS Oncology Workflow
      DATE: August 7, 2018TIME: 08:00AM PDT, 11:00AM EDTWe are currently at an exciting precipice in clinical oncology management, where an increased rate of biomarker identification is drivi...
      Speaker: Hannah Child, PhD
      Sponsored By: Horizon Discovery
      10 1
      JUN 21, 2018 | 10:30 AM
      Setting Up Next-Generation Sequencing for the Needs of Routine Molecular Diagnostics With a Focus on the Suitability of the GeneReader NGS System for Lung Cancer Patients
      Setting Up Next-Generation Sequencing for the Needs of Routine...
      The introduction of targeted therapies into the clinical management of lung adenocarcinoma has had a massive impact on patient care. Multiple driver mutations are now druggable and treatments...
      Speaker: Paul Hofman, MD, PhD
      Presented at: Precision Medicine Virtual Event Series 2018
      Sponsored By: QIAGEN
      1
      JUN 20, 2018 | 9:00 AM
      Identifying Driver Alterations and Therapeutic Options in Cancer
      Identifying Driver Alterations and Therapeutic Options in Cancer
      With prospective clinical sequencing of tumors emerging as a mainstay in cancer care, there is an urgent need for clinical support tools that aid clinicians in their decision making. To this...
      Speaker: Nikolaus Schultz, PhD
      Presented at: Precision Medicine Virtual Event Series 2018
      1
      MAY 31, 2018 | 12:00 PM
      Cas9-Based Genome Engineering
      Cas9-Based Genome Engineering
      I will discuss three novel technologies that our laboratory has developed in recent years. In the first part of the talk, I will describe our work on engineering variants of the RNA-guided en...
      Speaker: Alejandro Chavez, MD, PhD
      Presented at: Lab Automation Virtual Event Series 2018
      2
      MAY 30, 2018 | 10:30 AM
      Inhibitors of NSD2 Discovered by High-Throughput Screening with a Nucleosome Substrate
      Inhibitors of NSD2 Discovered by High-Throughput Screening with...
      NSD2 catalyzes the mono- and di-methylation of the e-amine of lysine 36 from histone H3, utilizing the methyl donor S-adenosyl-L-methionine. Increased catalytic activity of NSD2, either by ov...
      Speaker: Nathan Coussens, PhD
      Presented at: Lab Automation Virtual Event Series 2018
      1
    MAR 14, 2019 | 9:00 AM
    A Gene Expression Based Screening Platform for Mouse Models of Late-Onset Alzheimer's Disease
    A Gene Expression Based Screening Platform for Mouse Models of...
    Late-onset Alzheimer’s disease (LOAD) is the most common form of dementia worldwide. To date, animal models of Alzheimer’s have focused on rare familial mutations, due to a lack o...
    Speaker: Greg Carter, PhD
    Presented at: Neuroscience Virtual Event Series 2019
    Sponsored By: NanoString Technologies
    2
    MAR 13, 2019 | 6:00 AM
    Keynote Presentation: Updates from the NIH BRAIN Initiative
    Keynote Presentation: Updates from the NIH BRAIN Initiative
    Joshua Gordon, M.D., Ph.D., Director of the National Institute of Mental Health, will provide an overview of challenges and opportunities in mental health research. Dr. Gordon will present em...
    Speaker: Joshua A. Gordon, MD, PhD
    Presented at: Neuroscience Virtual Event Series 2019
    3
    FEB 27, 2019 | 10:30 AM
    The Current State-of-the-Art Tissue Expression Analysis Platform for Detection & Quantification of Target & Biomarker mRNAs, Splice Variants and Mutations in Preclinical & Clinical Tissues
    The Current State-of-the-Art Tissue Expression Analysis Platform...
    Advanced Cell Diagnostics’ RNAscope products and assay services are utilized widely for tissue-based gene expression analysis in early target validation, preclinical animal efficacy and...
    Speaker: Christopher Bunker, PhD
    Presented at: Drug Discovery Virtual Event Series 2019
    Sponsored By: Advanced Cell Diagnostics
    1
    FEB 27, 2019 | 7:30 AM
    Keynote Presentation: Second Harmonic Generation Detection of Ras Conformational Changes and Discovery of a Novel Small-Molecule Binder
    Keynote Presentation: Second Harmonic Generation Detection of...
    Second harmonic generation (SHG) is a biophysical method that sensitively measures real-time conformational change of biomolecules attached to membranes. SHG has recently been applied to dete...
    Speaker: Frank McCormick, PhD
    Presented at: Drug Discovery Virtual Event Series 2019
    1
    NOV 20, 2018 | 7:00 AM
    COLD-PCR technology: current status and application in liquid biopsies for cancer and prenatal diagnosis
    COLD-PCR technology: current status and application in liquid...
    DATE: November 20, 2018TIME: 07:00 PSTSince its original development (2008) COLD-PCR has been used by several groups for increasing the sensitivity of mutation detection in di...
    Speaker: Mike Makrigiorgos, PhD
    Sponsored By: Revvity
    5
     
     
  • NOV 15, 2018 | 12:00 PM
    Using human stem cells to model neocortical gyration phenotypes
    Using human stem cells to model neocortical gyration phenotypes
    Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Using human genetics approaches, we recently identified bi-allelic truncatin...
    Speaker: Ashleigh Schaffer
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    6 1
    NOV 15, 2018 | 8:00 AM
    Precise Gene Editing of Human Pluripotent Stem Cells
    Precise Gene Editing of Human Pluripotent Stem Cells
    CRISPR ribonucleoproteins (RNPs) can generate programmable gene edits, however imprecise editing and efficient delivery to human stem cells are key challenges. Here we describe novel biochemi...
    Speaker: Kris Saha
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    11
    NOV 15, 2018 | 7:00 AM
    Use of stem-cell derived endothelial cells for disease relevant cell modeling and drug discovery
    Use of stem-cell derived endothelial cells for disease relevant...
    The use of human pluripotent stem cells (hPSCs) for in vitro disease-modeling is limited by the lack of robust and efficient protocols for the differentiation of relevant adult cell types. Pr...
    Speaker: Filip Roudnicky
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    8
    NOV 15, 2018 | 4:00 AM
    Generation and application of 3D-organoid cell culture models using human induced pluripotent stem cells (iPSCs) for drug discovery
    Generation and application of 3D-organoid cell culture models...
    Development of physiologically relevant cellular models, with strong translatability to human pathophysiology, is critical for identification and validation of novel therapeutic targets. Cell...
    Speaker: Ryan Hicks
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    10 2
    NOV 14, 2018 | 9:00 AM
    Accelerating Cancer Research and Clinical Innovations Using OncoLand
    Accelerating Cancer Research and Clinical Innovations Using OncoLand
    With significant decrease in the cost of sequencing in numerous commercial as well as cancer center–driven initiatives, genomic profiling is increasingly becoming routine across multipl...
    Speaker: Bing Zhou, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2018
    Sponsored By: QIAGEN
    1
     
     
  • OCT 31, 2018 | 8:00 AM
    Chromatin immunoprecipitation: Five steps to great results
    Chromatin immunoprecipitation: Five steps to great results
    DATE: October 31, 2018TIME: 8:00AM PDTChromatin immunoprecipitation (ChIP) is a technique researchers employ to obtain a snapshot of protein-DNA interactions in the cell.  ChI...
    Speaker: Eliza Small, PhD
    Sponsored By: Thermo Fisher Scientific
    10
    OCT 23, 2018 | 10:00 AM
    Pediatric Cancer Genomics: Accessing Data, Tools and Visualizations in St. Jude Cloud
    Pediatric Cancer Genomics: Accessing Data, Tools and Visualizations...
    DATE: October 23, 2018TIME: 10:00am PDT, 1:00pm EDT Next-generation genomic sequencing is transforming what is known about pediatric cancer and how we treat patients. But eve...
    Speaker: Scott Newman, PhD , Clay McLeod
    Sponsored By: DNAnexus
    5
    OCT 11, 2018 | 1:30 PM
    Exploiting Cis-Regulatory Enhancers as Therapeutic Targets in Cancer
    Exploiting Cis-Regulatory Enhancers as Therapeutic Targets in...
    Recent work has identified epigenomic features of distal regulatory elements to be dynamic and defining indicators of cellular specification and transformation. Of particular relevance is our...
    Speaker: Martin Hirst, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    1
    OCT 11, 2018 | 12:00 PM
    Lung Cancer Evolution and Immune Escape
    Lung Cancer Evolution and Immune Escape
    Lung cancer is the leading cause of cancer-related mortality worldwide. Large-scale sequencing studies have revealed the complex genomic landscape of NSCLC and genomic differences between lun...
    Speaker: Nicholas McGranahan, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    1
    OCT 11, 2018 | 9:00 AM
    Destabilization and Degradation of MYC: More Ways Than One
    Destabilization and Degradation of MYC: More Ways Than One
    The oncogenic transcription factor c-MYC (MYC) is deregulated, and often overexpressed, in more than 50% of cancers. MYC deregulation is associated with poor prognosis and aggressive disease,...
    Speaker: Jason De Melo, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2018
    1
     
     
  • OCT 03, 2018 | 12:00 PM
    Using CRISPR and Stem Cells to Treat Genetic Disease
    Using CRISPR and Stem Cells to Treat Genetic Disease
    Decoding human genetic disease allows us to develop models of the pathology that can be directly tested with gene correction or targeted drug therapy.  Dominant negative mutations are pa...
    Speaker: Bruce Conklin, MD
    Presented at: CRISPR Virtual Event Series 2018
    1
    SEP 12, 2018 | 12:00 PM
    ONETest PathoGenome: A Target Hybridization-Based Next-Generation Sequencing Assay to Tackle Undiagnosed Infections
    ONETest PathoGenome: A Target Hybridization-Based Next-Generation...
    Every year, approximately 800,000 critically ill patients are hospitals in the USA with undiagnosed infections. The only option is to treat these patients with broad-spectrum antimicrobial th...
    Speaker: Mohammad Qadir, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2018
    1 1
    SEP 12, 2018 | 6:00 AM
    Accelerating Tuberculosis Elimination with Genomics
    Accelerating Tuberculosis Elimination with Genomics
    The WHO has set ambitious targets for eliminating TB in low-incidence countries such as the US and Canada. While it’s true that the majority of TB cases in these settings arise from rea...
    Speaker: Jennifer Gardy, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2018
    3
    AUG 09, 2018 | 8:00 AM
    Exon-level array: Bridging the gap between chromosomal microarray and next-gen sequencing
    Exon-level array: Bridging the gap between chromosomal microarray...
    DATE:  August 9, 2018TIME:  8:00am PDT, 11:00am EDT Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive...
    Speaker: Nicole de Leeuw, PhD , Kristina Cusmano-Ozog, MD
    Sponsored By: Thermo Fisher Scientific - Applied Biosystems
    9
    AUG 07, 2018 | 8:00 AM
    Using Reference Standards to Validate your NGS Oncology Workflow
    Using Reference Standards to Validate your NGS Oncology Workflow
    DATE: August 7, 2018TIME: 08:00AM PDT, 11:00AM EDTWe are currently at an exciting precipice in clinical oncology management, where an increased rate of biomarker identification is drivi...
    Speaker: Hannah Child, PhD
    Sponsored By: Horizon Discovery
    10 1
     
     
  • JUN 21, 2018 | 10:30 AM
    Setting Up Next-Generation Sequencing for the Needs of Routine Molecular Diagnostics With a Focus on the Suitability of the GeneReader NGS System for Lung Cancer Patients
    Setting Up Next-Generation Sequencing for the Needs of Routine...
    The introduction of targeted therapies into the clinical management of lung adenocarcinoma has had a massive impact on patient care. Multiple driver mutations are now druggable and treatments...
    Speaker: Paul Hofman, MD, PhD
    Presented at: Precision Medicine Virtual Event Series 2018
    Sponsored By: QIAGEN
    1
    JUN 20, 2018 | 9:00 AM
    Identifying Driver Alterations and Therapeutic Options in Cancer
    Identifying Driver Alterations and Therapeutic Options in Cancer
    With prospective clinical sequencing of tumors emerging as a mainstay in cancer care, there is an urgent need for clinical support tools that aid clinicians in their decision making. To this...
    Speaker: Nikolaus Schultz, PhD
    Presented at: Precision Medicine Virtual Event Series 2018
    1
    MAY 31, 2018 | 12:00 PM
    Cas9-Based Genome Engineering
    Cas9-Based Genome Engineering
    I will discuss three novel technologies that our laboratory has developed in recent years. In the first part of the talk, I will describe our work on engineering variants of the RNA-guided en...
    Speaker: Alejandro Chavez, MD, PhD
    Presented at: Lab Automation Virtual Event Series 2018
    2
    MAY 30, 2018 | 10:30 AM
    Inhibitors of NSD2 Discovered by High-Throughput Screening with a Nucleosome Substrate
    Inhibitors of NSD2 Discovered by High-Throughput Screening with...
    NSD2 catalyzes the mono- and di-methylation of the e-amine of lysine 36 from histone H3, utilizing the methyl donor S-adenosyl-L-methionine. Increased catalytic activity of NSD2, either by ov...
    Speaker: Nathan Coussens, PhD
    Presented at: Lab Automation Virtual Event Series 2018
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